Recently added

DSpace/Manakin Repository

UMC Repository: Recent submissions

  • Intellectual and Behavioral Phenotypes of Smith–Magenis Syndrome: Comparisons between Individuals with a 17p11.2 Deletion and Pathogenic RAI1 Variant 
    Linders, Cathelijne C.; van Eeghen, Agnies M.; Zinkstok, Janneke R.; van den Boogaard, Marie José; Boot, Erik (Multidisciplinary Digital Publishing Institute (MDPI), 2023-07-25)
    Aim: Smith–Magenis syndrome (SMS) is a rare genetic neurodevelopmental disorder caused by a 17p11.2 deletion or pathogenic variant in the RAI1 gene. SMS is associated with developmental delay, intellectual disability (ID), ...
  • Psychotic experiences and mental health outcomes in the general population 
    Austin, Stephen F; Hastrup, Lene Halling; van Os, Jim; Simonsen, Erik (Elsevier, 2023-10)
  • Linking functional and structural brain organisation with behaviour in autism: a multimodal EU-AIMS Longitudinal European Autism Project (LEAP) study 
    EU-AIMS LEAP group (BioMed Central, 2023-12)
    Neuroimaging analyses of brain structure and function in autism have typically been conducted in isolation, missing the sensitivity gains of linking data across modalities. Here we focus on the integration of structural ...
  • Pharmacogenetics and phenoconversion: the influence on side effects experienced by psychiatric patients 
    den Uil, Manon G.; Hut, Hannelotte W.; Wagelaar, Kay R.; Abdullah-Koolmees, Heshu; Cahn, Wiepke; Wilting, Ingeborg; Deneer, Vera H.M. (Frontiers Media S. A., 2023-08-25)
    Introduction: Preventing side effects is important to ensure optimal psychopharmacotherapy and therapeutic adherence among psychiatric patients. Obtaining the pharmacogenetic profile of CYP2C19 and CYP2D6 can play an ...
  • Subclinical synovial proliferation in patients with severe haemophilia A: The value of ultrasound screening and biochemical markers 
    van Bergen, Eline D.P.; van Leeuwen, Flora H.P.; Foppen, Wouter; Timmer, Merel A.; Schutgens, Roger E.G.; Mastbergen, Simon C.; Lafeber, Floris P.J.G.; de Jong, Pim A.; Fischer, Kathelijn; van Vulpen, Lize F.D. (Wiley-Blackwell, 2023-11)
    Aim: Subclinical bleeding and inflammation play a role in progression of haemophilic arthropathy. Synovial proliferation is predictive of joint bleeding and its early detection may guide treatment changes and prevent ...
  • Pelvic insufficiency fractures and pelvic bone metastases after neoadjuvant (chemo)radiotherapy for rectal cancer 
    Rijpma-Jacobs, Lotte; van der Vlies, Ellen; Meek, David B.; Bollen, Thomas L.; Siersema, Peter D.; Weusten, Bas L.A.M.; Intven, Martijn; van Lelyveld, Niels; Los, Maartje (Informa Healthcare, 2023-10)
    Background: Pelvic insufficiency fractures (PIFs) are a late complication of radiotherapy for pelvic malignancies. We evaluated the incidence, radiologic findings, clinical course, and outcome of PIFs in patients treated ...
  • A Framework for Assessing the Effect of Cardiac and Respiratory Motion for Stereotactic Arrhythmia Radioablation Using a Digital Phantom With a 17-Segment Model: A STOPSTORM.eu Consortium Study 
    Stevens, Raoul R F; Hazelaar, Colien; Bogowicz, Marta; Ter Bekke, Rachel M A; Volders, Paul G A; Verhoeven, Karolien; de Ruysscher, Dirk; Verhoeff, Joost J C; Fast, Martin F; Mandija, Stefano; Cvek, Jakub; Knybel, Lukas; Dvorak, Pavel; Blanck, Oliver; van Elmpt, Wouter (Elsevier, 2024-02-01)
    PURPOSE: The optimal motion management strategy for patients receiving stereotactic arrhythmia radioablation (STAR) for the treatment of ventricular tachycardia (VT) is not fully known. We developed a framework using a ...
  • Does the impact of COVID-19 on patients with systemic sclerosis change over time? 
    Deibel, Elisabeth; Carreira, Patricia E; Vonk, Madelon; Del Papa, Nicoletta; Bečvář, Radim; Guillén-Del-Castillo, Alfredo; Campochiaro, Corrado; Poormoghim, Hadi; Liem, Sophie; Lazzaroni, Maria-Grazia; Giollo, Alessandro; Mekinian, Arsène; de Vries-Bouwstra, Jeska; De Santis, Maria; Balbir-Gurman, Alexandra; Mihai, Carina; De Luca, Giacomo; Moiseev, Sergey; Zanatta, Elisabetta; Foti, Rosario; Rednic, Simona; Denton, Christopher; Cutolo, Maurizio; Belloli, Laura; Airo, Paolo; Garzanova, Liudmila; Moroncini, Gianluca; İnanç, Murat; Panopoulos, Stylianos; Tandaipan, Jose-Luis; Chatelus, Emmanuel; Rosato, Edoardo; Kuwana, Masataka; Yavuz, Sule; Alegre-Sancho, Juan J; Smith, Vanessa; Szűcs, Gabriella; Henes, Joerg; Rodríguez-Pintó, Ignasi; Atzeni, Fabiola; Spierings, Julia; Truchetet, Marie-Elise; Milchert, Marcin; Brito de Araujo, Daniel; Riemekasten, Gabriela; Bernardino, Vera; Martin, Thierry; Del Galdo, Francesco; Vacca, Alessandra; Mendoza, Fabian; Midtvedt, Øyvind; Murdaca, Giuseppe; Santiago, Tânia; Codullo, Veronica; Cacciapaglia, Fabio; Walker, Ulrich; Brunborg, Cathrine; Tirelli, Francesca; Allanore, Yannick; Furst, Daniel E; Matucci, Marco; Gabrielli, Armando; Distler, Oliver; Hoffmann-Vold, Anna-Maria (John Wiley & Sons Inc., 2024-01)
    Objective: The outcome of patients with COVID-19 improved over the pandemic, including patients with systemic rheumatic diseases. However, data on patients with systemic sclerosis (SSc) are lacking. This study aimed to ...
  • Familial motor neuron disease: co-occurrence of PLS and ALS (-FTD) 
    de Boer, Eva M J; Demaegd, Koen C; de Bie, Charlotte I; Veldink, Jan H; van den Berg, Leonard H; van Es, Michael A (Informa Healthcare, 2024-02)
    OBJECTIVE: To report the frequency and characteristics of patients diagnosed with primary lateral sclerosis (PLS) with a positive family history for motor neuron diseases (MND) in the Netherlands and to compare our findings ...
  • Control in the absence of choice: A qualitative study on decision-making about gastrostomy in people with amyotrophic lateral sclerosis, caregivers, and healthcare professionals 
    van Eenennaam, Remko M; Rave, Neele; Kruithof, Willeke J; Kruitwagen-van Reenen, Esther T; van den Berg, Leonard H; Visser-Meily, Johanna A; Beelen, Anita (Public Library of Science, 2023-09)
    BACKGROUND: Gastrostomy is recommended in amyotrophic lateral sclerosis for long-term nutritional support, however, people with amyotrophic lateral sclerosis and healthcare professionals perceive decision-making as complex. ...
  • Efficacy and Safety of Ravulizumab, a Complement C5 Inhibitor, in Adults With Amyotrophic Lateral Sclerosis: A Randomized Clinical Trial 
    Genge, Angela; van den Berg, Leonard H; Frick, Glen; Han, Steve; Abikoff, Cori; Simmons, Adam; Lin, Qun; Patra, Kaushik; Kupperman, Erik; Berry, James D (American Medical Association, 2023-10-01)
    Importance: Additional therapies for amyotrophic lateral sclerosis (ALS) are urgently needed. Immune-mediated complement activation may be involved in ALS pathogenesis as evidenced by the upregulation of terminal components; ...
  • The association between hospital variation in curative treatment for esophagogastric cancer and health-related quality of life and survival 
    Vissers, Pauline A.J.; Luijten, Josianne C.H.B.M.; Lemmens, Valery E.P.P.; van Laarhoven, Hanneke W.M.; Slingerland, Marije; Wijnhoven, Bas P.L.; Rosman, C.; Mook, Stella; Heisterkamp, Joos; Hendriksen, Ellen M.; Gisbertz, Suzanne S.; Nieuwenhuijzen, Grard A.P.; Verhoeven, Rob H.A. (W.B. Saunders Ltd, 2023-10)
    Background: As previous studies showed significant hospital variation in curative treatment of esophagogastric cancer, this study assesses the association between this variation and overall, cancer-specific and recurrence-free ...
  • A Second Ductoscopy Procedure in Patients with Recurrent and Persistent Pathological Nipple Discharge 
    Makineli, Seher; Filipe, Mando D.; Vriens, Menno R.; Van Diest, Paul; Witkamp, Arjen J. (S. Karger AG, 2023-08-01)
    Background: Most patients suffering from pathological nipple discharge (PND) undergo local surgical procedures because standard radiological imaging often fails to reveal the cause. Ductoscopy is a minimally invasive ...
  • Evaluating Physiological MRI Parameters in Patients with Brain Metastases Undergoing Stereotactic Radiosurgery-A Preliminary Analysis and Case Report 
    van Grinsven, Eva E; de Leeuw, Jordi; for Neuroimaging, Amsterdam, Netherlands, Spinoza; Verhoeff, Joost J C; van Zandvoort, Martine J E; Cho, Junghun; Philippens, Marielle E P; Bhogal, Alex A (Multidisciplinary Digital Publishing Institute (MDPI), 2023-09)
    Brain metastases occur in ten to thirty percent of the adult cancer population. Treatment consists of different (palliative) options, including stereotactic radiosurgery (SRS). Sensitive MRI biomarkers are needed to better ...
  • Identification of candidate genes for developmental colour agnosia in a single unique family 
    Nijboer, Tanja C W; Hessel, Ellen V S; van Haaften, Gijs W; van Zandvoort, Martine J; van der Spek, Peter J; Troelstra, Christine; de Kovel, Carolien G F; Koeleman, Bobby P C; van der Zwaag, Bert; Brilstra, Eva H; Burbach, J Peter H (Public Library of Science, 2023-09)
    Colour agnosia is a disorder that impairs colour knowledge (naming, recognition) despite intact colour perception. Previously, we have identified the first and only-known family with hereditary developmental colour agnosia. ...
  • Reduced MUNC18-1 Levels, Synaptic Proteome Changes, and Altered Network Activity in STXBP1-Related Disorder Patient Neurons 
    van Berkel, Annemiek Arienne; Lammertse, Hanna Charlotte Andrea; Öttl, Miriam; Koopmans, Frank; Misra-Isrie, Mala; Meijer, Marieke; Dilena, Robertino; van Hasselt, Peter Marin; Engelen, Marc; van Haelst, Mieke; Smit, August Benjamin; van der Sluis, Sophie; Toonen, Ruud Franciscus; Verhage, Matthijs (Elsevier, 2024-01)
    Background: STXBP1-related disorder (STXBP1-RD) is a neurodevelopmental disorder caused by pathogenic variants in the STXBP1 gene. Its gene product MUNC18-1 organizes synaptic vesicle exocytosis and is essential for synaptic ...
  • Female Gene Networks Are Expressed in Myofibroblast-Like Smooth Muscle Cells in Vulnerable Atherosclerotic Plaques 
    Benavente, Ernest Diez; Karnewar, Santosh; Buono, Michele; Mili, Eloi; Hartman, Robin J G; Kapteijn, Daniek; Slenders, Lotte; Daniels, Mark; Aherrahrou, Redouane; Reinberger, Tobias; Mol, Barend M; de Borst, Gert J; de Kleijn, Dominique P V; Prange, Koen H M; Depuydt, Marie A C; de Winther, Menno P J; Kuiper, Johan; Björkegren, Johan L M; Erdmann, Jeanette; Civelek, Mete; Mokry, Michal; Owens, Gary K; Pasterkamp, Gerard; den Ruijter, Hester M (Lippincott Williams & Wilkins, 2023-10)
    BACKGROUND: Women presenting with coronary artery disease more often present with fibrous atherosclerotic plaques, which are currently understudied. Phenotypically modulated smooth muscle cells (SMCs) contribute to ...
  • Proteomic Atlas of Atherosclerosis: The Contribution of Proteoglycans to Sex Differences, Plaque Phenotypes, and Outcomes 
    Theofilatos, Konstantinos; Stojkovic, Stefan; Hasman, Maria; van der Laan, Sander W; Baig, Ferheen; Barallobre-Barreiro, Javier; Schmidt, Lukas; Yin, Siqi; Yin, Xiaoke; Burnap, Sean; Singh, Bhawana; Popham, Jude; Harkot, Olesya; Kampf, Stephanie; Nackenhorst, Maja Carina; Strassl, Andreas; Loewe, Christian; Demyanets, Svitlana; Neumayer, Christoph; Bilban, Martin; Hengstenberg, Christian; Huber, Kurt; Pasterkamp, Gerard; Wojta, Johann; Mayr, Manuel (Lippincott Williams & Wilkins, 2023-09-15)
    BACKGROUND: Using proteomics, we aimed to reveal molecular types of human atherosclerotic lesions and study their associations with histology, imaging, and cardiovascular outcomes. METHODS: Two hundred nineteen carotid ...
  • Longitudinal development of fatigue after treatment for childhood cancer: a national cohort study 
    Irestorm, Elin; van Gorp, Marloes; Twisk, Jos; Nijhof, Sanne; de Bont, Judith; Grootenhuis, Martha; van Litsenburg, Raphaele (Informa Healthcare, 2023-10)
    Background: Fatigue is a distressing and prevalent long-term sequela of treatment for childhood cancer, and there is a need for longitudinal studies to investigate the development of fatigue over time. The objective of ...
  • Nitrofurantoïne schiet vaak tekort bij mannen met cystitis 
    Platteel, Tamara; Beets, Marijn; Teeuwissen, Hendrik; Doesschate, Thijs ten; Venekamp, Roderick; van de Pol, Alma (Bohn Stafleu van Loghum, 2023-09)
    Mannen met cystitis worden in Nederland bij voorkeur behandeld met nitrofurantoïne. Deze therapie faalt echter relatief vaak, mogelijk omdat de prostaat ongemerkt geïnfecteerd is of vanwege resistentieontwikkeling. In een ...